ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645468877
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001123312.1:p.Arg518His
NM_001129840.2:c.1553G>A